{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA402947917", "communityStandardTitle": [ "NM_000455.5(STK11):c.368A>T (p.Gln123Leu)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.1218493A>T?assembly=hg19", "id": "chr19:g.1218493A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.1218494A>T?assembly=hg38", "id": "chr19:g.1218494A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/764449808", "rs": 764449808 } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 1218494, "referenceAllele": "A", "start": 1218493 } ], "hgvs": [ "NC_000019.10:g.1218494A>T", "CM000681.2:g.1218494A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 1218493, "referenceAllele": "A", "start": 1218492 } ], "hgvs": [ "NC_000019.9:g.1218493A>T", "CM000681.1:g.1218493A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 1169493, "referenceAllele": "A", "start": 1169492 } ], "hgvs": [ "NC_000019.8:g.1169493A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "T", "end": 34088, "referenceAllele": "A", "start": 34087 } ], "hgvs": [ "NG_007460.2:g.34088A>T", "LRG_319:g.34088A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000586" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1504, "referenceAllele": "A", "start": 1503 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000585465.3:c.368A>T" ], "proteinEffect": { "hgvs": "ENSP00000490268.2:p.Gln123Leu", "hgvsWellDefined": "ENSP00000490268.2:p.Gln123Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS914327" }, { "coordinates": [ { "allele": "T", "end": 677, "referenceAllele": "A", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000585748.3:c.-5A>T" ], "proteinEffect": { "hgvs": "ENSP00000477641.2:n.-5A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914328" }, { "coordinates": [ { "allele": "T", "end": 335, "endIntronDirection": "-", "endIntronOffset": 1878, "referenceAllele": "A", "start": 335, "startIntronDirection": "-", "startIntronOffset": 1879 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000585851.2:c.291-1879A>T" ], "proteinEffect": { "hgvs": "ENSP00000467912.2:n.291-1879A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914330" }, { "coordinates": [ { "allele": "T", "end": 1504, "referenceAllele": "A", "start": 1503 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000326873.12:c.368A>T" ], "proteinEffect": { "hgvs": "ENSP00000324856.6:p.Gln123Leu", "hgvsWellDefined": "ENSP00000324856.6:p.Gln123Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS746796", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326873.12:c.368A>T" }, "RefSeq": { "hgvs": "NM_000455.5:c.368A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000324856.6:p.Gln123Leu" }, "RefSeq": { "hgvs": "NP_000446.1:p.Gln123Leu" } } } }, { "coordinates": [ { "allele": "T", "end": 1096, "referenceAllele": "A", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000652231.1:c.368A>T" ], "proteinEffect": { "hgvs": "ENSP00000498804.1:p.Gln123Leu", "hgvsWellDefined": "ENSP00000498804.1:p.Gln123Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS772089" }, { "coordinates": [ { "allele": "T", "end": 818, "referenceAllele": "A", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000326873.11:c.368A>T" ], "proteinEffect": { "hgvs": "ENSP00000324856.6:p.Gln123Leu", "hgvsWellDefined": "ENSP00000324856.6:p.Gln123Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247182" }, { "coordinates": [ { "allele": "T", "end": 677, "referenceAllele": "A", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000585748.2:c.-5A>T" ], "proteinEffect": { "hgvs": "ENSP00000477641.1:n.-5A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS388929" }, { "coordinates": [ { "allele": "T", "end": 335, "endIntronDirection": "-", "endIntronOffset": 1878, "referenceAllele": "A", "start": 335, "startIntronDirection": "-", "startIntronOffset": 1879 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000585851.1:c.291-1879A>T" ], "proteinEffect": { "hgvs": "ENSP00000467912.1:n.291-1879A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247350" }, { "coordinates": [ { "allele": "T", "end": 1328, "referenceAllele": "A", "start": 1327 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000586243.5:c.368A>T" ], "proteinEffect": { "hgvs": "ENSP00000467240.2:p.Gln123Leu", "hgvsWellDefined": "ENSP00000467240.2:p.Gln123Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247267" }, { "coordinates": [ { "allele": "T", "end": 191, "referenceAllele": "A", "start": 190 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000586358.5:n.191A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS389344" }, { "coordinates": [ { "allele": "T", "end": 458, "referenceAllele": "A", "start": 457 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000589152.5:n.458A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS391283" }, { "coordinates": [ { "allele": "T", "end": 597, "referenceAllele": "A", "start": 596 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000593219.5:c.*193A>T" ], "proteinEffect": { "hgvs": "ENSP00000466610.1:n.*193A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS394095" }, { "@id": "http://reg.genome.network/allele/PA3086316418", "coordinates": [ { "allele": "T", "end": 1483, "referenceAllele": "A", "start": 1482 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "NM_000455.4:c.368A>T", "LRG_319t1:c.368A>T" ], "proteinEffect": { "hgvs": "NP_000446.1:p.Gln123Leu", "hgvsWellDefined": "NP_000446.1:p.Gln123Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS006517" }, { "coordinates": [ { "allele": "T", "end": 993, "referenceAllele": "A", "start": 992 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_005259617.1:c.368A>T" ], "proteinEffect": { "hgvs": "XP_005259674.1:p.Gln123Leu", "hgvsWellDefined": "XP_005259674.1:p.Gln123Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS062494" }, { "coordinates": [ { "allele": "T", "end": 993, "referenceAllele": "A", "start": 992 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_005259618.3:c.368A>T" ], "proteinEffect": { "hgvs": "XP_005259675.1:p.Gln123Leu", "hgvsWellDefined": "XP_005259675.1:p.Gln123Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS062495" }, { "coordinates": [ { "allele": "T", "end": 1124, "referenceAllele": "A", "start": 1123 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_011528209.1:c.146A>T" ], "proteinEffect": { "hgvs": "XP_011526511.1:p.Gln49Leu", "hgvsWellDefined": "XP_011526511.1:p.Gln49Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS095281" }, { "coordinates": [ { "allele": "T", "end": 993, "referenceAllele": "A", "start": 992 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_936204.1:n.993A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS131414" }, { "coordinates": [ { "allele": "T", "end": 993, "referenceAllele": "A", "start": 992 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_005259617.3:c.368A>T" ], "proteinEffect": { "hgvs": "XP_005259674.1:p.Gln123Leu", "hgvsWellDefined": "XP_005259674.1:p.Gln123Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS535037" }, { "coordinates": [ { "allele": "T", "end": 1124, "referenceAllele": "A", "start": 1123 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_011528209.2:c.146A>T" ], "proteinEffect": { "hgvs": "XP_011526511.1:p.Gln49Leu", "hgvsWellDefined": "XP_011526511.1:p.Gln49Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS549014" }, { "coordinates": [ { "allele": "T", "end": 993, "referenceAllele": "A", "start": 992 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_001753738.2:n.993A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS600199" }, { "coordinates": [ { "allele": "T", "end": 993, "referenceAllele": "A", "start": 992 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_001753739.1:n.993A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS600200" }, { "coordinates": [ { "allele": "T", "end": 993, "referenceAllele": "A", "start": 992 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_001753740.2:n.993A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS600201" }, { "@id": "http://reg.genome.network/allele/PA3086316418", "coordinates": [ { "allele": "T", "end": 1504, "referenceAllele": "A", "start": 1503 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "NM_000455.5:c.368A>T" ], "proteinEffect": { "hgvs": "NP_000446.1:p.Gln123Leu", "hgvsWellDefined": "NP_000446.1:p.Gln123Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS674854", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326873.12:c.368A>T" }, "RefSeq": { "hgvs": "NM_000455.5:c.368A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000324856.6:p.Gln123Leu" }, "RefSeq": { "hgvs": "NP_000446.1:p.Gln123Leu" } } } } ], "type": "nucleotide" }